Q58X variant of BBS4 (BBSome complex member BBS4)
Q58X in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q58X variant details
- rs886039802
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available